Sort   by:  
 Page size 
ProteomicsDeoxyhypusine synthase (DHPS) mutations alter the post-translational modification of eukaryotic initiation factor 5A (eIF5A) resulting in impaired human and mouse neural homeostasis
DHPS deficiency is a rare genetic disease caused by biallelic hypomorphic variants in the Deoxyhypusine synthase (DHPS) gene. The DHPS enzyme functions in mRNA translation by catalyzing the post-translational modification, and therefore activation, of the eukaryotic initiation factor 5A (eIF5A). The...
ORGANISM(S): Mus Musculus (ncbitaxon:10090) 
2023-06-06 | MSV000092112 | MassIVE
UnknownDifluoromethylornithine rebalances aberrant polyamine ratios in Snyder-Robinson syndrome
Not available
S-SCDT-10_15252-EMMM_202317833 | biostudies-other
UnknownThe functional and evolutionary impacts of human-specific deletions in conserved elements.
Not available
S-EPMC10202372 | biostudies-literature
UnknownFactors Associated With Revision Surgery After Internal Fixation of Hip Fractures.
Not available
S-EPMC5986292 | biostudies-literature
UnknownLow-frequency variation in TP53 has large effects on head circumference and intracranial volume.
Not available
S-EPMC6341110 | biostudies-literature
UnknownSARS-CoV-2 Viral Load in the Nasopharynx at Time of First Infection Among Unvaccinated Individuals: A Secondary Cross-Protocol Analysis of 4 Randomized Trials.
Not available
S-EPMC11117088 | biostudies-literature
UnknownThe UK10K project identifies rare variants in health and disease.
Not available
S-EPMC4773891 | biostudies-literature
UnknownImproved imputation of low-frequency and rare variants using the UK10K haplotype reference panel.
Not available
S-EPMC4579394 | biostudies-literature
UnknownPostoperative critical care and high-acuity care provision in the United Kingdom, Australia, and New Zealand.
Not available
S-EPMC6435907 | biostudies-literature
UnknownA rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans.
Not available
S-EPMC4167609 | biostudies-literature
Sort   by:  
 Page size